Recombinant Human Equilibrative nucleoside transporter 3 (SLC29A3), Truncated

Uniprot Id

Q9BZD2

Target Species

Human

Target Name

SLC29A3

Target Full Name

Equilibrative nucleoside transporter 3

Target Function

Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine.

Target Involvement

Histiocytosis-lymphadenopathy plus syndrome (HLAS)

Target Subcellular Location

Membrane; Multi-pass membrane protein. Late endosome membrane. Lysosome membrane. Note=Observed in a punctate intracellular pattern showing partial colocalization with late endosomes/lysosomes. Not detected at the cell surface.

Target Protein Families

SLC29A/ENT transporter (TC 2.A.57) family

Target Tissue Specificity

Widely expressed in both adult and fetal tissues. Highest levels in placenta, uterus, ovary, spleen, lymph node and bone marrow. Lowest levels in brain and heart.

Target Synonyms

ENT3; Equilibrative nucleoside transporter 3; HCLAP; hENT3; HJCD; PHID; S29A3_HUMAN; SLC29A3; Solute carrier family 29 (equilibrative nucleoside transporter) member 3; Solute carrier family 29 (nucleoside transporters) member 3; Solute carrier family 29 member 3

Target Background

This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.